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:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 247 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | HAMP CL E G H | 57817 | 15598 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040281 - Very frequent | | | 15 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | HJV CL E G H | 148738 | 4887 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040281 - Very frequent | | | | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 85 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 157 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 220 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 109 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | SLC40A1 CL E G H | 30061 | 10909 | ORPHA:139491 | Hemochromatosis type 4 | HP:0040283 - Occasional | | | 56 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 166 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0002612 | HP:0002612 | Congenital hepatic fibrosis | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |