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:0033334 | HP:0033334 | Abnormal embryonic development | 0 | BTG4 CL E G H | 54766 | 13862 | OMIM:619009 | OOCYTE MATURATION DEFECT 8; OOMD8 | | | | | | |
HP:0033334 | HP:0033334 | Abnormal embryonic development | 0 | FBXO43 CL E G H | 286151 | 28521 | OMIM:619697 | OOCYTE MATURATION DEFECT 12; OOMD12 | | | | | | |
HP:0033334 | HP:0033334 | Abnormal embryonic development | 0 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0033334 | HP:0033334 | Abnormal embryonic development | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:619011 | OOCYTE MATURATION DEFECT 9; OOMD9 | | | | 2 | | |
HP:0033334 | HP:0033335 | Abnormal preimplantation embryonic development | 1 | BTG4 CL E G H | 54766 | 13862 | OMIM:619009 | OOCYTE MATURATION DEFECT 8; OOMD8 | | | | | | |
HP:0033334 | HP:0033335 | Abnormal preimplantation embryonic development | 1 | FBXO43 CL E G H | 286151 | 28521 | OMIM:619697 | OOCYTE MATURATION DEFECT 12; OOMD12 | | | | | | |
HP:0033334 | HP:0033335 | Abnormal preimplantation embryonic development | 1 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0033334 | HP:0033335 | Abnormal preimplantation embryonic development | 1 | TRIP13 CL E G H | 9319 | 12307 | OMIM:619011 | OOCYTE MATURATION DEFECT 9; OOMD9 | | | | 2 | | |
HP:0033334 | HP:0033336 | Zygotic cleavage failure | 2 | BTG4 CL E G H | 54766 | 13862 | OMIM:619009 | OOCYTE MATURATION DEFECT 8; OOMD8 | | | | | | |
HP:0033334 | HP:4000008 | Formation of multiple pronuclei during fertilization | 2 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0033334 | HP:0033712 | Repeated implantation failure | 2 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0033334 | HP:0033336 | Zygotic cleavage failure | 2 | TRIP13 CL E G H | 9319 | 12307 | OMIM:619011 | OOCYTE MATURATION DEFECT 9; OOMD9 | | | | 2 | | |