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:0004418 | HP:0004418 | Thrombophlebitis | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | | | | 60 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | F2 CL E G H | 2147 | 3535 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | | | | 44 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | HABP2 CL E G H | 3026 | 4798 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | | | | 58 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | | | | 183 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | PROC CL E G H | 5624 | 9451 | OMIM:612304 | Thrombophilia due to protein C deficiency, autosomal recessive | | | | 65 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | PROC CL E G H | 5624 | 9451 | OMIM:176860 | Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant | | | | 65 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | PROS1 CL E G H | 5627 | 9456 | ORPHA:743 | Severe hereditary thrombophilia due to congenital protein S deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | PROS1 CL E G H | 5627 | 9456 | OMIM:614514 | Thrombophilia due to protein S deficiency, autosomal recessive | | | | 75 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | PROS1 CL E G H | 5627 | 9456 | OMIM:612336 | Thrombophilia, hereditary, due to protein S deficiency, autosomal | | | | 75 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | SERPINC1 CL E G H | 462 | 775 | OMIM:613118 | Antithrombin III deficiency | | | | 88 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | | | | 88 | | |
HP:0004418 | HP:0004418 | Thrombophlebitis | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0004418 | HP:0004419 | Recurrent thrombophlebitis | 1 | F13A1 CL E G H | 2162 | 3531 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 60 | | |
HP:0004418 | HP:0004419 | Recurrent thrombophlebitis | 1 | F2 CL E G H | 2147 | 3535 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 44 | | |
HP:0004418 | HP:0004419 | Recurrent thrombophlebitis | 1 | HABP2 CL E G H | 3026 | 4798 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 58 | | |
HP:0004418 | HP:0004419 | Recurrent thrombophlebitis | 1 | MTHFR CL E G H | 4524 | 7436 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 183 | | |
HP:0004418 | HP:0002638 | Superficial thrombophlebitis | 1 | PROC CL E G H | 5624 | 9451 | OMIM:612304 | Thrombophilia due to protein C deficiency, autosomal recessive | . | | | 65 | | |
HP:0004418 | HP:0002638 | Superficial thrombophlebitis | 1 | PROC CL E G H | 5624 | 9451 | OMIM:176860 | Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant | . | | | 65 | | |
HP:0004418 | HP:0002638 | Superficial thrombophlebitis | 1 | PROS1 CL E G H | 5627 | 9456 | OMIM:614514 | Thrombophilia due to protein S deficiency, autosomal recessive | . | | | 75 | | |
HP:0004418 | HP:0002638 | Superficial thrombophlebitis | 1 | PROS1 CL E G H | 5627 | 9456 | OMIM:612336 | Thrombophilia, hereditary, due to protein S deficiency, autosomal | . | | | 75 | | |
HP:0004418 | HP:0004419 | Recurrent thrombophlebitis | 1 | SERPINC1 CL E G H | 462 | 775 | OMIM:613118 | Antithrombin III deficiency | . | | | 88 | | |
HP:0004418 | HP:0002638 | Superficial thrombophlebitis | 1 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | HP:0040282 - Frequent | | | 88 | | |
HP:0004418 | HP:0004419 | Recurrent thrombophlebitis | 1 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |