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:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | | | | 39 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | | | | 86 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | | | | 57 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | | | | 39 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | | | | 33 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | | | | 33 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | | | | 44 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | F5 CL E G H | 2153 | 3542 | OMIM:227400 | Factor V deficiency | | | | 159 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | | | | 70 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | | | | 3 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | | | | 129 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | | | | 129 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | | | | | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | | 42 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0012200 | HP:0012200 | Abnormality of prothrombin | 0 | VKORC1 CL E G H | 79001 | 23663 | OMIM:607473 | Vitamin K-dependent clotting factors, combined deficiency of, 2 | | | | 25 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | | | | 39 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | | | | 86 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | | | | 57 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | | | | 39 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | | | | 33 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | | | | 33 | | |
HP:0012200 | HP:0040250 | Reduced prothrombin antigen | 1 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | HP:0040281 - Very frequent | | | 44 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | | | | 44 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | F5 CL E G H | 2153 | 3542 | OMIM:227400 | Factor V deficiency | | | | 159 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | | | | 70 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0012200 | HP:0003337 | Reduced prothrombin consumption | 1 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | GGCX CL E G H | 2677 | 4247 | OMIM:610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | | | | 129 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | | | | 129 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | | | | | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | | 42 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0012200 | HP:0032199 | Abnormal prothrombin time | 1 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0012200 | HP:0040250 | Reduced prothrombin antigen | 1 | VKORC1 CL E G H | 79001 | 23663 | OMIM:607473 | Vitamin K-dependent clotting factors, combined deficiency of, 2 | | | | 25 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0012200 | HP:0032198 | Decreased prothrombin time | 2 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040282 - Frequent | | | 68 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040280 - Obligate | | | 33 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | . | | | 33 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | HP:0040281 - Very frequent | | | 44 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | . | | | 44 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | F5 CL E G H | 2153 | 3542 | OMIM:227400 | Factor V deficiency | . | | | 159 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | HP:0040282 - Frequent | | | 70 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | GGCX CL E G H | 2677 | 4247 | OMIM:610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | | | | 129 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | | | | 129 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040282 - Frequent | | | 35 | | |
HP:0012200 | HP:0032198 | Decreased prothrombin time | 2 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040281 - Very frequent | | | 56 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040281 - Very frequent | | | 77 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040281 - Very frequent | | | 82 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040283 - Occasional | | | 42 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0012200 | HP:0008151 | Prolonged prothrombin time | 2 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |