Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005268 | HP:0005268 | Miscarriage | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040283 - Occasional | | | 104 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040283 - Occasional | | | 5 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | HP:0040284 - Very rare | | | 580 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040282 - Frequent | | | 345 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040283 - Occasional | | | 57 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040283 - Occasional | | | 97 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | NLRP7 CL E G H | 199713 | 22947 | OMIM:231090 | Hydatidiform mole, recurrent, 1 | | | | 171 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | | | | 19 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | | | | 391 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | SERPINE1 CL E G H | 5054 | 8583 | ORPHA:465 | Congenital plasminogen activator inhibitor type 1 deficiency | HP:0040282 - Frequent | | | 39 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040283 - Occasional | | | 23 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0005268 | HP:0005268 | Miscarriage | 0 | XIST CL E G H | 7503 | 12810 | OMIM:300087 | X INACTIVATION, FAMILIAL SKEWED, 1; SXI1 | | | | 2 | | |