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:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 146 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | | | | 111 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 111 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | | | | 144 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | | | | 144 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 144 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 14 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | SEMA7A CL E G H | 8482 | 10741 | OMIM:619874 | | | | | 5 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | SLC10A1 CL E G H | 6554 | 10905 | OMIM:619256 | HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2 | | | | | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | | | | 34 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:607748 | Hypercholanemia, familial | | | | 149 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0030984 | HP:0030984 | Abnormal serum bile acid concentration | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040281 - Very frequent | | | 146 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | | | | 111 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040281 - Very frequent | | | 111 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | . | | | 144 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | | | | 144 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040281 - Very frequent | | | 144 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040281 - Very frequent | | | 14 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | SEMA7A CL E G H | 8482 | 10741 | OMIM:619874 | | | | | 5 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | SLC10A1 CL E G H | 6554 | 10905 | OMIM:619256 | HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2 | | | | | | |
HP:0030984 | HP:0030985 | Decreased serum bile acid concentration | 1 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | TJP2 CL E G H | 9414 | 11828 | OMIM:607748 | Hypercholanemia, familial | . | | | 149 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0030984 | HP:0012202 | Increased serum bile acid concentration | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0030984 | HP:0200150 | Increased serum bile acid concentration during pregnancy | 2 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | . | | | 111 | | |
HP:0030984 | HP:0200150 | Increased serum bile acid concentration during pregnancy | 2 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0030984 | HP:0034048 | Decreased circulating chenodeoxycholic acid concentration | 2 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |