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:0005912 | HP:0005912 | Biliary atresia | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:615272 | Fanconi anemia, complementation group Q | . | | | 158 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | | | | 8 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | . | | | 28 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0005912 | HP:0005912 | Biliary atresia | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | . | | | 39 | | |
HP:0005912 | HP:0005248 | Intrahepatic biliary atresia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0005912 | HP:0005248 | Intrahepatic biliary atresia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0005912 | HP:0005242 | Extrahepatic biliary duct atresia | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0005912 | HP:0005248 | Intrahepatic biliary atresia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0005912 | HP:0005248 | Intrahepatic biliary atresia | 1 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0005912 | HP:0005248 | Intrahepatic biliary atresia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 166 | | |
HP:0005912 | HP:0005248 | Intrahepatic biliary atresia | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |